ClinVar Miner

Submissions for variant NM_144691.4(CAPN12):c.132C>T (p.Ile44=)

gnomAD frequency: 0.00155  dbSNP: rs111831826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907772 SCV001052498 benign not provided 2018-07-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000907772 SCV005313675 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003910861 SCV004718840 likely benign CAPN12-related disorder 2019-06-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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